Gene table of BLOC1S6 : biogenesis of lysosomal organelles complex 1 subunit 6

Gene-disease associations table

Disease IDDisease nameSource of annotation with BLOC1S6OMIM linkNumber of associated genesgenes
PS203300HERMANSKY-PUDLAK SYNDROMEClinVar, OMIM link to OMIM 9BLOC1S6, HPS5, HPS3, HPS6, AP3B1, DTNBP1, BLOC1S3, HPS1, HPS4

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Annotation of the gene BLOC1S6

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Membrane TraffickingR-HSA-1999915.26
trans-Golgi Network Vesicle BuddingR-HSA-1999926.85
Golgi Associated Vesicle BiogenesisR-HSA-4327227.23
Clathrin derived vesicle buddingR-HSA-4218376.85
Vesicle-mediated transportR-HSA-56536564.33
Associated GO terms for Molecular function
GO termGO IDGO IC
cytoskeletal protein bindingGO:00080923.02
SNARE bindingGO:00001494.87
actin filament bindingGO:00510154.93
actin bindingGO:00037793.74
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
protein bindingGO:00055150.46
protein complex bindingGO:00324033.09
syntaxin bindingGO:00199055.19
protein dimerization activityGO:00469832.72
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16